Diseases

Neuromuscular and neurodegenerative diseases represent an arduous sanitary and social problem.
In Italy there are still many young and aged people affected by these kinds of disorder with severe effects on their work activity, their private and social life.
Neuromuscular and neurodegenerative diseases include different disorders originating from alterations in muscle or neuronal cells.

Examples:

• Duchenne Muscular Dystrophy shows its onset in early childhood with a progressive movement impediment evolving to the ultimate exitus before 30 years.
• Steinert Myotonic Dystrophy affects not only the muscle district but also heart and brain determining a severe disability.
• Amyotrophic Lateral Sclerosis is characterized by motoneuron degeneration determining critical weakness and muscle atrophy coming to the ultimate exitus of respiratory function arrest.
• Parkinson disease is characterized by degenerationof cells controlling movement function, determining movement delay and hands tremor.
• Alzheimer disease deeply affects memory, orientation, language and other cognitive abilities, determining a total personality disjunction and dementia.

Unfortunately there are even more Neuromuscular and Neurodegenerative diseases than the one described above. They are generally considered infrequent but since they are so many still affect large part of the population.

Our current knowledge on these kinds of disorders derives in a predominant part from research in basic science such as biochemistry, anatomy, physiology and molecular biology.

In the past thirty years we assisted to an exciting development of research allowing Neurologist Clinicians to use different parameters in order to apply recent reseach findings to clinics and diagnosis.
In particular, the wide use of biomolecular techniques to study heritable diseases significantly has significantly changed the way we diagnose and consider at clinical level many neurological problems..